Two Down syndrome patients with rec(21),dupq,inv(21)(p11;q2109) from a familial pericentric inversion |
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Authors: | C Léonard M Gautier P M Sinet J Selva J L Huret |
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Abstract: | Aneusomie de recombinaison arose from a familial pericentric inversion of a chromosome 21. Two female patients had a typical Down syndrome; one of them had slight psychomotor retardation. There was partial trisomy 21q2109----qter in these two patients but ZnCu SOD activity was normal. |
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